Genetics Flashcards
Degrees of consanguinity with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene that will prompt investigation?
1st and 2nd
Age of diagnosis in RCC that will prompt investigation?
46 or less
Focality of tumors that will prompt investigation?
Bilateral or multifoical
Number of first or 2nd degree relatives with RCC will prompt investigation?
1 or more
RCC deficient in which 2 enzymes will prompt investigation?
Succinate dehydrogenase (SDH) Fumarate Hydratase (FH)
Multiple chromophobes, oncocytoma or oncocytic hybrid may lead you to believe that the patient has what kind of syndrome?
Birt-Hogg-Dube syndrome
AML of the kidney and clear cell probably has what gene?
Tuberous sclerosis complex
Major features of VHL Disease?
- Hemangioblastomas of the retina, spine, or brain
- Clear cel RCC diagnosed <40 years of age or multiple bilateral ccRCC tumors diagnosed at any age.
- Adrenal or parangaglioma
- Paraganglioma of the abdomen, thorax, or neck
- Retinal angiomas
The retina, spine or brain may have _______________. VHL
Hemangioblastomas
Clear cell RCC diagnosed at what age? VHL
40 or less
Multiple or bilateral ccRCC diagnosed at what age? VHL
at any age
Adrenal or _______________.VHL
paraganglioma
Abdomen, thorax, neck may have?VHL
Paraganglioma
Retina may have _______. VHL
Hemangioblastoma
Endolymphatic _____________ VHL
sac tumors
Papillary cystadenomas of the ____________ and ______________. VHL
epididymis and broad ligament
Cystadenoma or neuroendocrine tumor or multiple cysts of the _______________. VHL
pancreas
Major feature of tuberous sclerosis?
Renal AML Cardiac rhabdomyoma Cortical dysplasias (tubers and cerebral white matter migration lines) Angiofibromas 3 or more or fiborous cephalic plaque Hypomelanotic macules Lymphangioleiomyomatosis Multiple retinal nodular hamartomas Shagreen patch Subependymal giant cell astrocytoma Subependymal nodules Ungual fibromas
If there is a family member with an early diagnosis, when should screening begin?
10 years prior to the youngest one who had Ca
Treatment of choice of BHDS?
Nephron sparing whenever possible
Treatment of choice of HLRCC?
TOTAL RADICAL NEPHRECTOMY
Treatment of choice of HPRC?
Nephron sparing whenever possible
Treatment of choice of Tuberous sclerosis?
Nephron sparing whenever possible
Treatment of choice VHL masses?
Nephron sparing whenever possible
